Diagnosis

The ideal is that the diagnosis is confirmed between the 3 and the 6 first months

With a well-guided investigation and with the ideal exams, the parents may find whether their child has thalassemia before the child completes one year of age. The ideal is that the diagnosis is confirmed between the three and the six first months of life, so that the treatment – as required – begins as soon as possible. Check below which the recommended exams are, when they should be done and the importance of each one of them for discovering the disease and preserving the general health of the person with thalassemia.

Full blood count

Is the first exam requested and serves to, first of all, check whether the child has anemia or any other blood change.

When to do:in the third month of life, mainly if the child has the classic signs, such as paleness, jaundice (yellowish skin and eyes), sleepiness, irritation, frequent cry, difficulty to sleep.

Warning from the expert: making the blood count is the first step, but for a possible thalassemic person it is not enough. If investigation stops there, a major thalassemia, for example, may be treated in the childhood as a common anemia, hide the real disease and cause complications, such as appearance of bone deformities – especially in the face –, which could have been avoided with monthly blood transfusions. Therefore, if you or your husband (or wife) don't know if you have the gene of thalassemia, but descend from people from the region of the Mediterranean sea or always had anemia throughout life, warn the physician of your child. Thus, he/she may request a more specific exam.

Hemoglobin electrophoresis

blood exam, simple and efficient, indicated for children with suspected anemia and that may be done in the most labs of the country, including the health stations with free service. After collection of 3ml to 5ml of blood, a process using electricity separates and identifies the hemoglobins. By the characteristics of these proteins it is possible to make the accurate diagnosis of the thalassemia or of other types of anemia, such as the falciform one.

When to do: from the third month of life.

Molecular biology

More modern exam, uses advanced technique capable of precisely identifying which is the genetic mutation responsible for malformation of the hemoglobin. In practice, it is possible to know not only if a person has thalassemia, but what type among many existing varieties of the disease. It is also capable of identifying the thalassemic trace which, in rare cases, may not be diagnosed by the electrophoresis.

When to do: from the three to the six months of age

Warning from the expert: Not every lab has the technology required to offer the exam or does not make the service available for free. Because of that, in Brazil, a partnership of ABRASTA with the blood center from the State University of Campinas (Unicamp) was made to offer guidelines and support the teams from the Brazilian treatment centers and thus meet the demand for the test.

Hemoglobin and Genome Lab – Blood Center of UNICAMP - (19) 3521-8661

Did you know?
There is an explanation for the track of the thalassemia to be done only from the three months of life. In the first months right after birth, the red blood cells still carry in their inside the fetal hemoglobin, which has no genetic defect characterizing the thalassemia. Only in the third month, the fetal hemoglobin levels decrease to be replaced by the definite hemoglobins. This is the reason why the little foot test, made in the maternity hospital to track abnormalities in the blood cells, cannot identify the thalassemia. Any diagnosis in this period, therefore, may be inconsiderate.

Other core exams throughout life

Blood exam assessing the levels of ferritin

It is the most common test to check excess iron in the organism of people with thalassemia, especially the major one. The ferritin is an iron reserve protein, found in all cells.

When to do: periodically, from the 10th blood transfusion

Warning from the expert: this exam alone is not efficient to assess the exact amount of iron to which the person with thalassemia is exposed. This is because the levels of ferritin increase not only when there is overload of the mineral in the organism, but in case the presence of other health problems, such as inflammations and infections. To complete, studies show – and no one knows why yet – that the ferritin cannot point out with precision the iron overload in the heart, only in other organs. This failure may favor appearance in the future of arrhythmia, cardiac insufficiency and even be fatal for the thalassemic person.

Magnetic nuclear resonance with T2*

It is the only non-invasive exam (that is, without surgery) that can currently reveal the presence of iron overload in all organs, including in the heart. The result of resonance is also important to help the physician at the time of indicating the ideal type and dose of chelating agent to eliminate excess mineral in the organism of the person with thalassemia. This is because the Scientific Medical Committee of ABRASTA prepared a protocol for application of chelation which considers especially the accumulation of iron in the liver and heart.

When to do: from the 10 years of age, preferably, on an annual basis.

Warning from the expert: the exam is not covered by the SUS or by the health plans. However, the associates of ABRASTA from the entire country may be served free of charge at Hospital Albert Einstein, in São Paulo, thanks to a partnership. Know more on the service at the link Support to Patient or contact the talk to us to order a schedule.